A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene.
A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene.
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角蛋白 1 基因 p.I479T 新突变导致环形表皮松解性鱼鳞病一例
DOI：
10.4103/ijd.ijd_115_20
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发表时间：
2021-03
影响因子：
1.7
通讯作者：
Zhao X
中科院分区：
文献类型：
--
作者：
Chen L;Quan C;Zheng J;Pan M;Zhao X
我们报告一例环状表皮增生性鱼鳞病（AEI）角蛋白1基因从头突变造成的。AEI是一种罕见的常染色体显性遗传性角化病，是大疱性先天性鱼鳞病样红皮病的独特表型变异。AEI的水疱和糜烂很普遍，因此，最初有时会与大疱性表皮炎、肠病性肢端皮炎和葡萄球菌烫伤样皮肤综合征相混淆。包括下一代测序和桑格测序在内的基因检测对AEI诊断至关重要。AEI可通过伤口敷料、预防感染和使用润肤剂、湿润剂和角质层分离产品进行治疗;局部或全身使用维甲酸也可能有帮助。
We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma. Blisters and erosions in AEI are widespread; hence, initially, it is sometimes mistaken with epidermolysis bullosa, acrodermatitis enteropathica, and staphylococcal scalded skin syndrome. Genetic tests including next-generation sequencing and Sanger sequencing are essential for AEI diagnosis. AEI is treated symptomatically by wound dressing, prevention of infection, and the use of emollients, humectants, and keratolytic products; topical or systemic retinoids may also prove helpful.